Congenital myopathyGene: FLNC
Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Four unrelated patients with cardiomyopathy, arthrogryposis, and a limb-girdle pattern of skeletal muscle weakness at birth or during the first year of life harboured de novo missense variants; three of these patients had p.Ala1186Val.
Kiselev A, Vaz R, Knyazeva A, et al. : De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Hum Mutat. 2018;39(9):1161–72. 10.1002/humu.23559
Created: 4 Dec 2019, 1:12 p.m. | Last Modified: 4 Dec 2019, 1:12 p.m.
Panel Version: 1.208
Myopathy, myofibrillar, 5, 609524
Comment when marking as ready: earliest onset in teens.
Created: 3 Feb 2017, noon
Muscle phenotypes outlined above generally of adult onset (earliest in teens) so not relevant for congenital myopathy.
Created: 30 Jan 2017, 4:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy, familial hypertrophic 26; Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524
Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy to Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
Source Expert Review was added to FLNC. Source NHS GMS was added to FLNC.
Gene: flnc has been classified as Amber List (Moderate Evidence).
Publications for gene: FLNC were set to
Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524 to Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy
Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
FLNC was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen